The Generet Prize for medical research in the field of rare diseases has been awarded to Prof. Miikka Vikkula of the de Duve Institute, UCLouvain. He received the prize out of the hands of HRH Princess Astrid on December 6th for his work on vascular anomalies.

The Generet Prize, awarded for the first time, is a prestigious prize of € 500,000 for a leading researcher in the field of rare diseases in Belgium whose work aims to better understand the disease processes and to translate such knowledge to improve the quality of life of patients. The amount will be increased to € 1,000,000 subject to a positive interim progress report. With this award the Generet Fund aims to give a strong boost to research on rare diseases in Belgium and to increase the influence of Belgium as an international center of research on rare diseases.

Prof. Vikkula works on vascular anomalies (angiomas), which are relatively rare lesions consisting of malformed blood vessels. These lesions can be found anywhere in the body, from skin to various organs. They can cause chronic pain, skin ulceration and bleeding, muscle weakness and other dysfunctions, for example of an extremity. The only available treatments are lasertherapy, sclerotherapy and surgery. However, in many cases these treatments are ineffective and sometimes even impossible, or regrowth may occur. The research group of Prof. Vikkula aims to develop novel treatments that will give patients a higher quality of life while reducing the burden of their treatments.

Key to the group’s research is their unique biobank containing hundreds of tissue samples collected from patients during surgical treatments. In the project awarded by the Generet Prize, they will study these samples using the latest techniques of whole genome sequencing and bioinformatic analyses, with the aim to identify novel mutated genes that cause vascular anomalies. They will also try to localize the cells that contain the mutations in tissue sections. In a next step, the group will characterize the mechanisms that - due to the genetic mutations - lead to vascular anomalies.

The existing genetic data suggest that many mutations and affected cellular components in vascular anomalies also are implicated in various cancers. Therefore, the final aim of the project is to perform preclinical trials by testing molecules that have recently been developed for cancer treatment. Such a repurposing approach could lead to rapid implementation of the results into patient care, as the group has demonstrated for the use of rapamycin to treat venous malformations.